ABSTRACT
Patient no 1, a boy, was carrier of a de novo del (14) (pter- greater than q23::q32- greater than qter). Patient no 2, a boy, had a de novo del (14) (pter- greater than q23::q24.2- greater than qter). Common dysmorphisms included bushy eyebrows, frontal bossing, and micrognathia. Patient no 2 had features of Holt-Oram syndrome, i.e. congenital heart defect and severe ulnar defect. Patient no 1 had congenital heart defect but no typical osseous disorders. The association of Holt-Oram syndrome and del 14q24.1 is stressed. Patient no 1 was heterozygous for Pl (alpha-1-antitrypsin) phenotypes. The gene locus could thus be excluded from q24 and q31, and tentatively assigned to q32.1.
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Deletion , Chromosomes, Human, 13-15 , alpha 1-Antitrypsin/genetics , Child, Preschool , Chromosome Mapping , Humans , Karyotyping , Male , PhenotypeABSTRACT
Aortic arch hypoplasia is rare but carries a poor prognosis. It is usually associated with a left to right shunt at ventricular level. The association of an aorto-pulmonary fistula is exceptional. A case of a 5 1/2 month old infant treated successfully by simultaneous correction is reported with a review of the physiopathological changes. Pulmonary hypertension and aortic perfusion depend on the calibre of the ductus arteriosus and its evolution. The therapeutic problems which result are the suppression or palliation of pulmonary hypertension and resaturisation of distal aortic vascularisation. Surgery is the only hope of cure, and current techniques are reviewed: two stage procedures with revascularisation of the distal aorta and pulmonary artery banding, or simultaneous correction of aortic continuity with suppression of the left to right shunt under cardiopulmonary bypass. The technical conditions are analysed: perfusion of the different aortic segments, methods of reestablishing aortic continuity. Good results are as yet rare, and are obtained after complete correction under cardiopulmonary bypass.
